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esophageal atresia/tracheoesophageal fistula - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

esophageal atresia/tracheoesophageal fistula

MONDO:0008586

Also known as:Esophageal Atresia and/or Tracheoesophageal Fistulatracheoesophageal fistula with or without esohageal atresiaTEF

Find Clinical TrialsTrials

Overview

A rare congenital, esophageal disorder characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.

Clinical Trials2 registered · 2 recruiting

Patient Orgs1 organizations · EA/TEF Child and Family Support Connection, Inc.

Clinical Presentation

Features include: Tracheoesophageal fistula and Esophageal atresia.

Organ System	Phenotype Count	Example Features
Digestive system	1	Esophageal atresia

Explore clinical features

Diagnosis

Biomarker and diagnostic research for esophageal atresia/tracheoesophageal fistula has been reported in the published literature.

Prognosis

Estimated prevalence: 1-5 in 10,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include procedural interventions and medical devices. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

153 publications have been identified in PubMed for esophageal atresia/tracheoesophageal fistula. Research spans Review / Meta-Analysis (25%), Epidemiology / Natural History (23%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Research summaries	39

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

EA/TEF Child and Family Support Connection, Inc.

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:189960

Orphanet

European rare disease database

Orphanet:1199

GARD

Genetic and Rare Diseases Info Center

GARD:6381

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with EA/TEF Child and Family Support Connection, Inc. and other patient organizations for support?

← Back to All Diseases

Kisho

esophageal atresia/tracheoesophageal fistula

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

The impact of right-sided aortic arch on surgical outcomes in esophageal atresia: A systematic review.

Esophageal atresia and parental psychological distress in the neonatal period.

Complex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature.

esophageal atresia/tracheoesophageal fistula

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

The impact of right-sided aortic arch on surgical outcomes in esophageal atresia: A systematic review.

Esophageal atresia and parental psychological distress in the neonatal period.

Complex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature.